Marisa Wexler, MS,  senior science writer—

Scholar Rock plans to soon initiate a Phase 3 clinical trial of apitegromab, its investigational muscle-directed treatment for spinal muscular atrophy (SMA), in type 2 and 3 patients who are unable to walk. “We anticipate initiating a Phase 3 trial to evaluate apitegromab in patients with non-ambulatory Type…

After being treated with Evrysdi (risdiplam) for at least a year, pre-symptomatic infants with spinal muscular atrophy (SMA) have retained the ability to swallow, and most have been able to stand and walk within developmentally normal windows. That’s according to new data from the RAINBOWFISH clinical trial presented…

A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its size — may be useful for treating spinal and bulbar muscular atrophy (SBMA), a rare form of adult-onset spinal muscular atrophy, a new study suggests.

The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the …

The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…

Biochemical modifications made to antisense oligonucleotides — molecules that are the basis of an existing therapy for spinal muscular atrophy (SMA) — may improve this and similar treatments, new research suggests. More work, which is underway, is needed as the biochemical changes seen to possibly offer an advantage were more…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Note: This story was updated on June 21, 2021, to clarify that these genetic tests are after a baby’s birth, and the Early Check study showed the importance of parents consenting prenatally to testing. As of this May, all babies born in North Carolina are now being tested at…

A decision from England’s National Institute for Health and Care Excellence (NICE) will make Spinraza (nusinersen) available to people with spinal muscular atrophy (SMA) type 3 who are unable to walk. In England, Spinraza is available through a managed access agreement (MAA) between NICE, the National Health…

Newborn screening can aid in the early diagnosis and prompt treatment of spinal muscular atrophy (SMA), which can lead to better clinical outcomes, according to a German study. “We strongly recommend that newborn screening for SMA ought to become universal in countries that provide SMA-specific medication,” the study’s researchers…